Distinct genetic architectures for syndromic and nonsyndromic congenital heart defects identified by...
Distinct genetic architectures for syndromic and nonsyndromic congenital heart defects identified by exome sequencing
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Author / Creator
Sifrim, Alejandro , Hitz, Marc-Phillip , Wilsdon, Anna , Breckpot, Jeroen , Turki, Saeed H Al , Thienpont, Bernard , McRae, Jeremy , Fitzgerald, Tomas W , Singh, Tarjinder , Swaminathan, Ganesh Jawahar , Prigmore, Elena , Rajan, Diana , Abdul-Khaliq, Hashim , Banka, Siddharth , Bauer, Ulrike M M , Bentham, Jamie , Berger, Felix , Bhattacharya, Shoumo , Bu'Lock, Frances , Canham, Natalie , Colgiu, Irina-Gabriela , Cosgrove, Catherine , Cox, Helen , Daehnert, Ingo , Daly, Allan , Danesh, John , Fryer, Alan , Gewillig, Marc , Hobson, Emma , Hoff, Kirstin , Homfray, Tessa , Kahlert, Anne-Karin , Ketley, Ami , Kramer, Hans-Heiner , Lachlan, Katherine , Lampe, Anne Katrin , Louw, Jacoba J , Manickara, Ashok Kumar , Manase, Dorin , McCarthy, Karen P , Metcalfe, Kay , Moore, Carmel , Newbury-Ecob, Ruth , Omer, Seham Osman , Ouwehand, Willem H , Park, Soo-Mi , Parker, Michael J , Pickardt, Thomas , Pollard, Martin O , Robert, Leema , Roberts, David J , Sambrook, Jennifer , Setchfield, Kerry , Stiller, Brigitte , Thornborough, Chris , Toka, Okan , Watkins, Hugh , Williams, Denise , Wright, Michael , Mital, Seema , Daubeney, Piers E F , Keavney, Bernard , Goodship, Judith , Abu-Sulaiman, Riyadh Mahdi , Klaassen, Sabine , Wright, Caroline F , Firth, Helen V , Barrett, Jeffrey C , Devriendt, Koenraad , FitzPatrick, David R , Brook, J David , Hurles, Matthew E , the INTERVAL Study , the Deciphering Developmental Disorders Study , the UK10K Consortium , INTERVAL Study , Deciphering Developmental Disorders Study and UK10K Consortium
Publisher
New York: Nature Publishing Group US
Journal title
Language
English
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Publication information
Publisher
New York: Nature Publishing Group US
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More information
Scope and Contents
Contents
Matthew Hurles and colleagues report exome sequencing of 1,891 individuals with syndromic or nonsyndromic congenital heart defects (CHD). They found that nonsyndromic CHD patients were enriched for protein-truncating variants in CHD-associated genes inherited from unaffected parents and identified three new syndromic CHD disorders caused by
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Alternative Titles
Full title
Distinct genetic architectures for syndromic and nonsyndromic congenital heart defects identified by exome sequencing
Authors, Artists and Contributors
Author / Creator
Hitz, Marc-Phillip
Wilsdon, Anna
Breckpot, Jeroen
Turki, Saeed H Al
Thienpont, Bernard
McRae, Jeremy
Fitzgerald, Tomas W
Singh, Tarjinder
Swaminathan, Ganesh Jawahar
Prigmore, Elena
Rajan, Diana
Abdul-Khaliq, Hashim
Banka, Siddharth
Bauer, Ulrike M M
Bentham, Jamie
Berger, Felix
Bhattacharya, Shoumo
Bu'Lock, Frances
Canham, Natalie
Colgiu, Irina-Gabriela
Cosgrove, Catherine
Cox, Helen
Daehnert, Ingo
Daly, Allan
Danesh, John
Fryer, Alan
Gewillig, Marc
Hobson, Emma
Hoff, Kirstin
Homfray, Tessa
Kahlert, Anne-Karin
Ketley, Ami
Kramer, Hans-Heiner
Lachlan, Katherine
Lampe, Anne Katrin
Louw, Jacoba J
Manickara, Ashok Kumar
Manase, Dorin
McCarthy, Karen P
Metcalfe, Kay
Moore, Carmel
Newbury-Ecob, Ruth
Omer, Seham Osman
Ouwehand, Willem H
Park, Soo-Mi
Parker, Michael J
Pickardt, Thomas
Pollard, Martin O
Robert, Leema
Roberts, David J
Sambrook, Jennifer
Setchfield, Kerry
Stiller, Brigitte
Thornborough, Chris
Toka, Okan
Watkins, Hugh
Williams, Denise
Wright, Michael
Mital, Seema
Daubeney, Piers E F
Keavney, Bernard
Goodship, Judith
Abu-Sulaiman, Riyadh Mahdi
Klaassen, Sabine
Wright, Caroline F
Firth, Helen V
Barrett, Jeffrey C
Devriendt, Koenraad
FitzPatrick, David R
Brook, J David
Hurles, Matthew E
the INTERVAL Study
the Deciphering Developmental Disorders Study
the UK10K Consortium
INTERVAL Study
Deciphering Developmental Disorders Study
UK10K Consortium
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_5988037
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_5988037
Other Identifiers
ISSN
1061-4036
E-ISSN
1546-1718
DOI
10.1038/ng.3627
